abstract background von willebrand disease (vwd) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. the disease phenotype is due to quantitative and structural/functional defects in von willebrand factor (vwf) which is a glycoprotein with essential role as a carrier of fviii in circulation and also it serves the function as hemostasis regulator....

• Define genetic linkage and recombinant frequency • State how genetic distance may be estimated • State how restriction enzymes can be used for isolating genes • Define Restriction Fragment Length Polymorphisms (RFPLs) • Identify the main applications of RFLPs in gene mapping and carrier detection • State the principles used in identifying a specific gene in the genome by hybridisation with a ...

Germline mutations in highly penetrant autosomal dominant genes explain about 5% of all breast cancer, and heritable mutations in the BRCA1 breast and ovarian cancer susceptibility gene account for 2-3% of breast cancer in the general population. Nevertheless, the presence of such mutations is highly predictive of disease development. Since screening for mutations is still technically laborious...

Cystic fibrosis (CF) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. The aim of this study was to perform a comprehensive analysis of the C...

The present study was aimed to construct a fusion plasmid harboring the extracellular domain of the influenza A M2-protein (M2e), which was fused to the N-terminus of the truncated HSP70 (HSP70359–610) molecule as a new approach for future vaccine research against influenza A. The amplified fragments, M2e and HSP70359-610 genes, were gel-purified. The products were then single digested with Bam...

Mutations in arg-13 result in slow growth in minimal medium and can suppress mutations in carbamyl phosphate synthase-aspartate carbamyl transferase within the pyrimidine pathway; the exact biochemical function of the gene product is unknown. To understand the role of arg-13 in arginine metabolism, cosmids rescuing growth in arg-13 mutants were cloned and mapped to the position of arg-13 on LG ...